chondrodysplasia punctata

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chondrodysplasia puncta´ta a heterogeneous group of bone dysplasias, the common characteristic of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (rhizomelic dwarfism), an autosomal dominant form (Conradi-Hünermann syndrome), and a milder X-linked form.

chon·dro·dys·pla·si·a punc·ta·'ta

a developmental disorder characterized by epiphysial stippling, coronal clefting of the vertebrae, dwarfism with rhizomelic shortening of the limbs, joint contractures, congenital cataracts, ichthyosis, and mental retardation. Autosomal dominant and recessive and X-linked forms exist.

chondrodysplasia punctata

an inherited form of dwarfism characterized by skin lesions, radiographic evidence of epiphyseal stippling, and a pug nose. There are two types of the anomaly: a benign Conradi-Hünermann form marked by mild asymmetric limb shortening and a lethal rhizomelic form with marked proximal limb shortening. The Conradi-Hunermann form of the disorder is transmitted by an autosomal-dominant gene and the rhizomelic form by an autosomal-recessive gene.

chondrodysplasia punctata

A clinically and genetically heterogeneous group of conditions characterised by skeletal defects and stippled epiphyses.

Chondrodysplasia punctata types
• Autosomal dominant chondrodysplasia punctate, MIM 118650.
• Conradi-Hünermann syndrome, MIM 302960.
• Rhizomelic chondrodysplasia punctate, MIM 215100, 222765.
• X-linked recessive chondrodysplasia punctate, MIM 302950.

chondrodysplasia punctata

A heterogeneous group of bone dysplasias, all of which have epiphyseal stippling in infancy
References in periodicals archive ?
1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
1997) Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
1997) Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
2006) MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.
2015) A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Peroxisomal disease Peroxisome biogenesis disorders (PBDs) Zellweger spectrum disorders Zellweger syndrome (ZS) Neonatal adrenoleukodystrophy (NALD) Infantile Refsum disease (IRD) Rhizomelic chondrodysplasia punctata (RCDP) Single-enzyme deficiencies Adrenoleukodystrophy (ALD) Acyl-CoA oxidase deficiency D-Bifunctional protein deficiency 3-Ketoacyl-CoA thiolase deficiency Refsum disease (phytanyl-CoA hydroxylase deficiency), [alpha]-Methylacyl-CoA racemase deficiency Hyperoxaluria type I (alanine glyoxylate aminotransferase deficiency) Mevalonate kinase deficiency Glutaric aciduria 3 (glutaryl-CoA oxidase deficiency) Acatalasemia Table 3.
DISCUSSION: Chondrodysplasia punctata (CDP) is a rarely occurring skeletal dysplasia characterized by stippled, punctate calcifications around joints and within cartilages.
Poll-The, "The neurology of rhizomelic chondrodysplasia punctata," Orphanet Journal of Rare Diseases, vol.
Incesu, "Case report: rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn," Turkish Journal of Diagnostic and Interventional Radiology, vol.
Cuillier, "Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency, " Clinical Dysmorphology, vol.
Pauli, "Natural history of rhizomelic chondrodysplasia punctata," American Journal of Medical Genetics, vol.

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